You are using an outdated browser. Please upgrade your browser to improve your experience.
metabolic myopathy due to lactate transporter defect
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
Uniprot Description Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals.
Mondo Term and Equivalent IDs
MONDO:0009501: metabolic myopathy due to lactate transporter defect
Download Data for metabolic myopathy due to lactate transporter defect
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C565449
OMIM:245340
Orphanet:171690
SCTID:766715000
UMLS:C1855577
MONDO:0009501
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.